ID   UKAi007-B
AC   CVCL_A5NA
SY   P13_mut1; Patient 2 KIT D816V 1
DR   BioSamples; SAMEA8268472
DR   hPSCreg; UKAi007-B
DR   Wikidata; Q107117230
RX   PubMed=33512435;
CC   From: Universitatsklinikum Aachen; Aachen; Germany.
CC   Sequence variation: Mutation; HGNC; 76; ABL1; Simple; p.Gly725Ser (c.2173G>A) (p.Gly706Ser, c.2116G>A); ClinVar=VCV000133445; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 5382; IDH1; Simple; p.Val178Ile (c.532G>A); ClinVar=VCV000134520; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 6342; KIT; Simple; p.Asp816Val (c.2447A>T); ClinVar=VCV000013852; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 8803; PDGFRA; Simple; p.Ser478Pro (c.1432T>C); ClinVar=VCV000041794; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 10471; RUNX1; Simple; p.Met133Ile (c.399G>A); Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 10783; SRSF2; Simple; p.Pro95_Arg102del (c.284_307del); dbSNP=rs766200080; Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 25941; TET2; Simple; p.Arg1261Cys (c.3781C>T); Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 25941; TET2; Simple; p.Ser1292Arg (c.3876C>G); Zygosity=Heterozygous (PubMed=33512435).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Pro72Arg (c.215C>G); ClinVar=VCV000012351; Zygosity=Homozygous (PubMed=33512435).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C9235; Systemic mastocytosis
DI   ORDO; Orphanet_2467; Systemic mastocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A5MZ ! UKAi007-A
SX   Male
AG   90Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33512435; DOI=10.1182/blood.2019004509;
RA   Szymanski de Toledo M.A., Gatz M., Sontag S., Gleixner K.V.,
RA   Eisenwort G., Feldberg K., Hamouda A.E.I., Kluge F., Guareschi R.,
RA   Rossetti G., Sechi A.S., Dufva O.M.J., Mustjoki S.M., Maurer A.,
RA   Schuler H.M., Goetzke R., Braunschweig T., Kaiser A., Panse J.,
RA   Jawhar M., Reiter A., Hilberg F., Ettmayer P., Wagner W., Koschmieder S.,
RA   Brummendorf T.H., Valent P., Chatain N., Zenke M.;
RT   "Nintedanib targets KIT D816V neoplastic cells derived from induced
RT   pluripotent stem cells of systemic mastocytosis.";
RL   Blood 137:2070-2084(2021).
//